| Hb Pavie | alpha135(H18)Val->Glu |
|---|
| CONTACT | Internal | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A separate by IEF and cellulose acetate at alkaline pH | ||
| CHROMATOGRAPHY | Hb X can be separated from Hb A with different types of chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GTG->GAG; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Slightly reduced oxygen affinity | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in a diabetic patient of Italian origin | ||
| OTHER INFORMATION | Quantity in the heterozygote ~25% |
| REFERENCES | |||
| 1. | Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., and Galac-teros, F.: Clin. Chim. Acta, 188:39, 1990. | ||